PYHIN1 Gene Summary [Human]

The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. Downregulation of this gene is associated with breast cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

Details

Type
Protein Coding
Official Symbol
PYHIN1
Official Name
pyrin and HIN domain family member 1 [Source:HGNC Symbol;Acc:HGNC:28894]
Ensembl ID
ENSG00000163564
Bio databases IDs NCBI: 149628 Ensembl: ENSG00000163564
Aliases pyrin and HIN domain family member 1
Synonyms IFIX, pyrin and HIN domain family member 1
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PYHIN1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • ubiquitin protein ligase binding
  • PAAD/DAPIN/Pyrin domain
  • HIN-200/IF120x domain
  • Death Domain Superfamily of protein-protein interaction domains

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • asthma
  • breast carcinoma
  • acute coronary syndrome
regulated by
  • stallimycin
  • bromodeoxyuridine
  • CSF3
  • interferon alpha
role in cell
  • expression in
  • growth
  • replication in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nucleoplasm
  • nucleoli

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PYHIN1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • positive regulation of protein localization to nucleus
  • protein destabilization
  • positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
  • positive regulation of transcription, DNA-dependent
  • activation of innate immune response
  • positive regulation of DNA binding
  • protein stabilization
  • cellular response to interferon-alpha
  • cellular response to interferon-beta

Cellular Component

Where in the cell the gene product is active
  • nuclear speck
  • cytosol
  • macromolecular complex
  • nucleolus
  • nucleoplasm

Molecular Function

What the gene product does at the molecular level
  • ubiquitin protein ligase binding
  • double-stranded DNA binding

Gene-Specific Assays for Results You Can Trust

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